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Nat Genet. 2005 Sep;37(9):931-3. Epub 2005 Aug 21.

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

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Laboratory for Human Genetics & Hematology, The Rockefeller University, New York, New York, USA.


Seven Fanconi anemia-associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRCA1-containing nuclear foci. Cells from individuals with Fanconi anemia of complementation groups D1 and J (FA-D1 and FA-J) have normal FANCD2 ubiquitination. Using genetic mapping, mutation identification and western-blot data, we identify the defective protein in FA-J cells as BRIP1 (also called BACH1), a DNA helicase that is a binding partner of the breast cancer tumor suppressor BRCA1.

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